Our son, James, was born with XLP. It is a genetic disease where the immune system doesn’t work as it should. XLP mainly affects males, but females can be carriers. There are two types of XLP: XLP1 and XLP2. James has XLP2. Because of this, from birth, he has been sick. Having XLP sets him up for very serious fatal diseases that his immune system cannot fight off. It is not if he will get these other diseases that will kill him - it is a matter of when. There are only 10 people known to have XLP in the United States and 100 world wide. Right now - James is relatively healthy. He has worked hard at "staying well". James had no idea he had XLP until he recently had genetic testing done. His days consist of work - home - gym - sleep and occasionally going out. If his sleep is disruupted he can become seriously ill - running high fevers, extreme body pain and feeling like he has the old fasioned flu. It is in these situations he can develop the other diseases which lead to certain death. Due to XLP he also has uncontrolled Ulcerative Colitis. No amount of meds will stop the bleeding. He will be taking part in a trial at the NIH (National Institutes of Health). He will be there 3 months and has to have a caregiver with him at all times for 2 months while he is there. His total time out of work will be 6-7 months.
Presently there is no real treatment. What James is having done is experimental and has never been done with anyone with XLP before. He is basically the guinea pig. He will be having Chemotherapy followed up by a bone marrow transplant, heavy duty meds, and various other medical interventions. These carry with them serious side effect - the worst of them being coma and death. Since James is relatively healthy we hope and pray these more serious "side effects" will never come to fruition.
The funds donated to James and our family while he is at NIH in Washington D.C. (National Institutes of Health). Most all his medical needs will be paid for by NIH. Our needs stem from:
Air travel for James and his dad.
James missing work without built up time - He will have 2 weeks without pay.
James's bills while he is away. for example - In order to not lose his apartment - he has to still pay his monthly rent.
He will be out of work for over 6 months.
Air travel for James and family members.
Due to my poor health my husband does not have built up time to take off from work either - he will be without pay for approximatly 2 weeks also.
There are many other expenses involved. Our need is urgent and needed as soon as possible. Expenses will continue for years. Any money collected will be kept in a special account until we see there is no longer a need for financial help. Any money left over (which would surprise me if there is any) will be donated back to NIH for them to continue to be able to provide for others in similar circumstances. The work they are doing there is incredible.
Please feel free to visit my FACEBOOK PAGE I have set up for keeping close track on what is happening with James and his progress. Thank you for looking at helping James with his situation! It means so much to us that we have people who care enough to help us!
James called me today (January 10) telling me that Dartmouth Genetics called him to inform him that there are even more mutations. So he now has 8 in total.....6 they are not concerned about. But he has one that is even more rare than the XLP. In fact the geneticist had never even heard of it before. It is called Heterozygous RTEL1 mutation and it is associated with familial pulmonary fibrosis. https://www.ncbi.nlm.nih.gov/pubmed/26022962/
Which means some tail thing at the end of the DNA is shortened and if it is...then his life expectancy is diminished. Our hope and fervent prayer is that this too can be helped with the bone marrow transplant. Johns Hopkins is now involved with James’s case because of how rare these all are. One good,thing is that they found this out now before chemotherapy! Because from what we understand, he will need very low chemotherapy because if he had the chemotherapy they had planned to give him, he wouldn’t have made out well. We are not sure what would happen, but it sounds grim to say the least.
Please pray join us in praying for James (and for our family....)
- Michael Durkin
- Svetlana Gerace
- Eufemia Osmer
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